Varaico: Literature-Extracted Genetic Variants

SLC9A1

204 papers

RefSeq Summary

This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein ...

Pfam Domains

Na_H_Exchangeraa 109–505UCSCSodium/hydrogen exchanger, transmembrane

NEXCaM_BDaa 599–700UCSCRegulatory region of Na+/H+ exchanger NHE binds to calmodulin

Gene Aliases

HGNC Name

solute carrier family 9 member A1

HGNC Previous Symbols

APNH; NHE1; NHE-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003047.5

p.E735E

c.2205A>G

Surrounding Variants

1 paper

NM_003047.5

p.E735*

c.2203G>T

2 papers

NM_003047.5

p.S729A

c.2185T>G

2 papers

NM_003047.5

p.S726A

c.2176T>G

2 papers

NM_003047.5

p.R746Q

c.2237G>A

1 paper

NM_003047.5

p.Q725*

c.2173C>T

2 papers

NM_003047.5

p.S723A

c.2167T>G

1 paper

NM_003047.5

p.A749T

c.2245G>A

1 paper

NM_003047.5

p.P721P

c.2163G>A

1 paper

NM_003047.5

p.D720A

c.2159A>C

2 papers

NM_003047.5

p.T718A

c.2152A>G

1 paper

NM_003047.5

p.P715L

c.2144C>T

1 paper

NM_003047.5

p.P715A

c.2143C>G